ESPE Abstracts

Background: Achondroplasia is the commonest type of skeletal dysplasia with an incidence of 1 in 20,000 and is due to recurrent and dominantly transmitted, activating mutations in Fibroblast Growth Factor Receptor 3 (FGFR3). Complications during infancy include foramen magnum stenosis and hydrocephalus which may lead to neurological morbidity and sudden unexplained mortality. Early detection and appropriate neurosurgical management can prevent these complications. How...

Background: Foramen magnum stenosis (FMS) is a common, serious complication of achondroplasia in infancy. The Achondroplasia Foramen Magnum Score (AFMS; 1-4) was developed to facilitate early detection of stenosis and inform appropriate neurosurgical management. All infants have a baseline screening MRI, of which approximately half of cases demonstrate AFMS3 (craniovertebral junction (CVJ) narrowing with flattening of the cervical cord) or AFMS4 (CVJ narrowing...

Background: The non-physiological ways and supraphysiological doses of insulin required for good glycemic control in patients with type 1 diabetes right from onset exposes them to effects of hyperinsulinism. In addition insulin resistance may be seen because of glucose toxicity and abnormal fat mass gain during puberty Insulin acts synergistically with luetinizing hormone to facilitate androgen production by theca.Objective and hypotheses: To investigate...

Introduction: It is essential that children and young people with diabetes are supported to manage their diabetes effectively to prevent the development of early complications, by education and self-management aimed towards maintaining good glycaemic control. However, the common clinical challenge is difficultly in engaging adolescents and young people with poor glycemic control in their diabetes management.Solution Focus Therapy (SFT) h...

Introduction: Turner’s syndrome (TS) is caused by an abnormality of one of the X chromosomes. Short stature or slow growth is one of the first manifestations of TS and it is recommended that GH therapy should be initiated as soon as it becomes apparent that affected girls are not growing normally to optimise final adult height. Idiopathic intracranial hypertension (IIH) is a well-known side effect of GH therapy, and it has also been reported in girls with TS with or witho...

Background: Management of patients with CAH remains challenging. There is increasing evidence to suggest that failure to optimize treatment during childhood not only affects final height but also leads to psychological and psychiatric problems. Previous qualitative structural T2-weighted MRI studies have identified white matter hyper-intensities in up to 46% of CAH patients. The nature and functional relevance of these abnormalities remains unknown.Objec...

We introduce the ReTRIACt Trial (NCT05579327) of tiratricol (Triac) for MCT8-deficiency, a rare X-linked disease resulting from disordered thyroid hormone transport and characterized by profound neurodevelopmental delay and features of chronic peripheral thyrotoxicosis. The ReTRIACt Trial aims to verify the effects of tiratricol observed in previous studies. It is a double-blind, randomized, multicenter, placebo-controlled study to evaluate the effects of tiratricol discontinu...

Background: In the past few years, new genes involved with familial predisposition to pituitary tumour development have been recognised, including AIP and SDHx. These factors are likely to underestimate the occurrence of familial pituitary tumour predisposition, commonly thought to account for 5% of all pituitary tumours. Furthermore, the clinical management of aggressive pituitary tumours is challenging, particularly when tumours exhibit resistance to standa...

Introduction: Lack of impulse control and impaired stress regulation may explain the development of obesity and its challenging therapy, already in youth. To improve self-regulation of overweight adolescents and subsequently their weight status, we tested, whether a biofeedback relaxation exercise decreases stress and whether relaxation services implemented in a novel Smartphone App supported intervention have effects on stress and weight outcomes.Method...

Background: We recently identified loss-of-function mutations in makorin ring finger 3 (MKRN3) as a cause of familial central precocious puberty (CPP). Analysis of Mkrn3 expression in the arcuate nucleus of mice showed high expression levels in juvenile mice, with a marked reduction prior to puberty onset, suggesting that MKRN3 inhibits puberty initiation. The function of MKRN3 is not known but based on its amino acid sequence, it is predicted to act as an ubiquitin l...